Reinhard E Friedrich1, Martin Gosau2, Andreas M Luebke3, Christian Hagel4, Felix K Kohlrusch2, Michael Hahn5, Simon VON Kroge5, Jan Hahn6,7, Ilse Wieland8, Martin Zenker8. 1. Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany; rfriedrich@uke.de. 2. Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany. 3. Institute of Pathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany. 4. Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany. 5. Institute of Osteology and Biomechanics, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany. 6. Max Planck Institute for the Structure and Dynamics of Matter (MPSD), Center for Free Electron Laser Science (CFEL), Hamburg, Germany. 7. Section Mass Spectrometry and Proteomics, Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 8. Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.
Abstract
BACKGROUND/AIM: The aim of this study was to present the long-term course of a patient with nevus sebaceous syndrome (NSS). Recent genetic studies place the syndrome in the emerging group of so-called RASopathies. The focus of the report is on surgical treatment and morphological and genetic findings of the face and oral cavity. CASE REPORT: A female patient was treated for congenital alterations of facial skin and oral mucosa. The oral lesions were removed repeatedly. Eruption of teeth on the lesion sites was made easier by the measures taken. However, after repeated ablation of the affected gingiva, the periodontal papillomatous epithelium re-differentiated into the same reddish, conspicuous, hyperplastic epithelium. The teeth in the affected region showed noticeable changes in position, surface, and shape. A HRAS mutation was detected only in the regions of altered oral epithelia and not in adjacent soft tissues. CONCLUSION: Reports on NSS rarely address oral manifestations. The recorded alterations of oral soft and hard tissues in NSS indicate a topographical relationship between the development of oral mucosa and teeth as well as the long-lasting impact of a sporadic mutation on organ development at this site.
BACKGROUND/AIM: The aim of this study was to present the long-term course of a patient with nevus sebaceous syndrome (NSS). Recent genetic studies place the syndrome in the emerging group of so-called RASopathies. The focus of the report is on surgical treatment and morphological and genetic findings of the face and oral cavity. CASE REPORT: A female patient was treated for congenital alterations of facial skin and oral mucosa. The oral lesions were removed repeatedly. Eruption of teeth on the lesion sites was made easier by the measures taken. However, after repeated ablation of the affected gingiva, the periodontal papillomatous epithelium re-differentiated into the same reddish, conspicuous, hyperplastic epithelium. The teeth in the affected region showed noticeable changes in position, surface, and shape. A HRAS mutation was detected only in the regions of altered oral epithelia and not in adjacent soft tissues. CONCLUSION: Reports on NSS rarely address oral manifestations. The recorded alterations of oral soft and hard tissues in NSS indicate a topographical relationship between the development of oral mucosa and teeth as well as the long-lasting impact of a sporadic mutation on organ development at this site.
Authors: Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno Journal: Mol Genet Genomic Med Date: 2019-03-19 Impact factor: 2.183
Authors: Jonathan L Levinsohn; Li C Tian; Lynn M Boyden; Jennifer M McNiff; Deepak Narayan; Erin S Loring; Duri Yun; Jeffrey L Sugarman; John D Overton; Shrikant M Mane; Richard P Lifton; Amy S Paller; Annette M Wagner; Richard J Antaya; Keith A Choate Journal: J Invest Dermatol Date: 2012-10-25 Impact factor: 8.551